...DNA Mutations- The Consequences Introduction Deoxyribonucleic acid, which is more commonly known as DNA, is the hereditary material in almost all organisms. Its purpose is to store and retain the genetic information needed to be able to construct as well as maintain an organism such as a human being. Due to this people like to say that it is seen as the blueprint of life, as it contains the instructions for everything a part of you, such as eye color, height, hair type and several more. It truly controls the development of a living organism making each and every one unique in their own manner; it is also able to pass down information as well. Deoxyribonucleic acid is typically found in the cell nucleus, and due to this it is given the name nuclear DNA, it can also be located in the mitochondria and be called mitochondrial DNA. The main components of DNA are: a phosphate group, 5 carbon sugar and a nitrogenous base. The four nitrogenous bases are adenine, guanine, thymine, as well as cytosine. The order and sequences of these bases determine information to help build as well as maintain an organism or to allow for different information to be transmitted from one and another. Each of the bases is attached to sugar and phosphate molecules which are held together by phosphodiesterase bonds. Together they form what is called a nucleotide. Nucleotides are arranged in two long strands, these strands form something known as a double helix. By doing so it allows for more DNA...
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...BIOL 1201, Section 2 Study Guide for New Material for Final Examination FOR THE TEST PLEASE BRING PENCILS (PLURAL), ERASER, CALCULATOR AND SPARE BATTERIES. While this study guide can help you prepare for our Final Examination, please understand that you are fully responsible for all materials covered in class and the problem sets, including materials not in this guide. Note that this study guide is only for the new materials covered since the 4th Examination. The Final Examination is comprehensive. About 20% of the points will be taken from this new material. The other 80% will be taken from material covered earlier in the semester. DNA Replication, basics of semi-conservative replication, names and functions of the 5 enzymes required for replication, origins of replication, replication bubbles, differences between leading and trailing strand replication, details of the processes occurring at the replication fork, characteristics of DNA replication, replication problems at the ends of eukaryotic chromosomes, functions of telomers and teleomerases, chromosome packing, etc. Genes to Proteins, “One gene – one polypeptide chain, flow of genetic information - prokaryotes vs. eukaryotes, mRNA, details of Transcription – initiation, elongation and termination, processing of eukaryotic transcript into mRNA - 5’ cap and poly A tail and their functions, RNA splicing with intron excision by “spliceosomes”, Translation components, mRNA, the genetic code, how the code was...
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...species as well as the diversity within the species.” (www.biology-online.org) The genetic diversities provide a way for the world to comply with the changing surroundings. As the world changes, the more creatures will adapt to their proper environments. The creatures offspring will have a higher survival rate. Genetic diversity is important because it serves as a path for population to change. Without genetic diversity, everything would look the same generation after generation. Ultimately, over time the species would become extinct. Mutation is changing the structure of a gene resulting in a different form in future generations. DNA is constantly subject to mutation or changes in the code. Mutations can be a good or bad thing. Most are actually good for us. “The good mutations that keep the world healthy are called silent mutations.” (www.geneticstheteach.org) But the mutations we hear about the most are the ones caused by sickness. Mutations caused by a single gene are some of the most well known diseases such as cystic fibrosis and sickle cell anemia. Most inherited genetic diseases are recessive, meaning a person must have two copies of the mutated gene to inherit the disease. Diseases caused by only one defective gene are extremely rare. Natural selection tends to change over time because the carriers are most likely dieing before having the chance to reproduce. Sexual reproduction by definition is the production of new life by combing genetic information from two...
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...List of Inherited Disease Posted by nutrifile on September 7th, 2011 Family history plays an important role in a person’s health condition. For example, if in anyfamily history of cancer, it means that we or our children have the possibility to inherit the same gene. In other words, the risk for developing cancer is much higher than the risk of individuals who do not have the gene. So far scientists have identified genes that can increase the roughly 400 most prominent disease conditions, such as Parkinson’s and cystic fibrosis or fatal condition caused by genetic mutations. Cystic fribrosis cause the formation of thick, sticky mucus in the lungs and various other parts. However some diseases are caused not only by a single gene but rather due to a combination of several factors such as diet and lifestyle. Call it like high blood pressure, heart disease or schizophrenia. Here are some of the diseases and their percentage of the level of risk that may be derived related to a history which is owned by family members: 1. High blood pressure Hypertension or high blood pressure is a state where a person experiences an increase in blood pressure above normal or chronic (long periods). Hypertension is often not realized because it is not symptomatic. To find the blood pressure measurements were taken. If not promptly treated, may increase the risk of stroke orheart attack. Inherited risk: According to experts, if one of your parents have high blood pressure, your risk of getting...
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...DNA the most dreaded situation of a cancerous cell can be formed. To start let’s look at the different kinds of radiation that may or may not effect DNA. Alpha, Beta, and Gamma Radiation Ionizing Radiation can change the way our body’s work and develop. Direct includes covalent linkage between nitrogenous bases, and creating structure like thymine dimmers. Indirect is when it interacts with water to create free radicals which can interact with a person’s DNA. It can cause single or double stranded breaks in the sugar- phosphate backbone. (Buttons, n.d.) Alpha Radiation is a process that needs to be swallowed, inhaled, and or absorbed into the blood stream. This can increase the risk of cancer also known as lung cancer. Radon is a silent but deadly killer. To determine if one has been affected by alpha particles testing would be completed with special equipment and gear to prevent those from any exposure. Beta Particles can be a helpful process of treatment to many, such as treating thyroid disorders, cancer, and Graves’ disease (hyperthyroidism). It also is part of agricultural such as live stock, and/or farming. Yes we as humans have beta emitters in our systems, but they are very weak. We can look back at Chernobyl, Hiroshima, and Nagasaki; whether it be an atomic bomb or a nuclear reactor failing and or contamination to all of those surrounding the site and within several miles radius can lead to high to deadly exposure. All of the land that...
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...Unit II: Genetics Brief Overview Reading: Chapters 3, 4, 9-12, 14 (Note: you have reviewed much of this already) The earth is teeming with living things. We can easily see some of the larger organisms—trees, grass, flowers, weeds, cats, fish, squirrels, dogs, insects, spiders, snails, mushrooms, lichens. Other organisms are everywhere, in the air, in water, soil and on our skin, but are too small to see with the naked eye—bacteria, viruses, protists (single celled eukaryotes such as amoebae), and tiny plants and animals. Life is remarkable in its complexity and diversity, and yet it all boils down to a very simple idea—the instructions for making all this life are written in nucleic acids, usually DNA. Most organisms have a set of DNA that contains the instructions for making that creature. This DNA contains four “letters” in which these instructions are written—A, T, G, and C. The only difference between the code for a dog and the code for a geranium is in the order of those letters in the code. If you took the DNA from a human and rearranged the letters in the right way, you could produce an oak tree—arrange them slightly differently and you would have a bumble bee—arrange them again and you would have the instructions for making a bacterium. Acting through more than two billion years, the process of evolution has taken one basic idea—a molecular code that uses four letters—and used it over and over, in millions of combinations to produce a dazzling array of life forms...
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...Evolvability of Animal Developmental Systems: Remarks on their Modularity and Robustness Riddhi Benani Department of Life Sciences Imperial College London, UK Supervisor: Prof Armand Leroi June 11, 2012 Abstract The ultimate aim of Evolutionary developmental biology (Evo-Devo) is to answer questions about evolvability of animal developmental systems. Evolvability or the ability to evolve is a ubiquitous property of living organisms. More specifically, it is the capacity to generate heritable, non-lethal phenotypic variation. Biologists have long recognized that evolvability of developmental programs in animals is key to their complex morphological architecture. However there is an increasing need to synthesize known facts about the developmental phenomena into mechanistic descriptions of complex systems. This ambition demands the need to understand the underlying determinants of evolvable developmental systems. I aim to review the dynamics of two systems-level phenomena: modularity and robustness and their evolutionary implications. Despite a plethora of literature, these terms have remained very ambiguous. Modularity reduces interdependence of components and confers robustness. Robustness, which is broadly understood, as the insensitivity of a biological systems functionalities to perturbations is another design principle in itself. Such robustness could enhance the potential for future evolutionary innovations. Both these properties therefore affect evolvability of a lineage...
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...Netherland. De Vries is wanted for his 1900 he rediscovered Mendel’s law of heredity, his theory of biological mutation and introduction of the term mutation. De Vries spent 13 years of observing his Oenothera lamarckiana (evening primrose) to prove his theory that species came from other species, through huge changes of characteristic traits (the” theory of mutation”). De Vries noticed that once in a while an offspring would have a great difference in characteristic traits from the original plant. In 1901 he published his findings on mutation in his book the Mutation Theory. His theory of mutation was also widely accepted by people because his work was the first experimental study of evolution in a large scale. Hugo de Vries was born on February 16, 1848 in Haalem, Netherland. De Vries is wanted for his 1900 he rediscovered Mendel’s law of heredity, his theory of biological mutation and introduction of the term mutation. De Vries spent 13 years of observing his Oenothera lamarckiana (evening primrose) to prove his theory that species came from other species, through huge changes of characteristic traits (the” theory of mutation”). De Vries noticed that once in a while an offspring would have a great difference in characteristic traits from the original plant. In 1901 he published his findings on mutation in his book the Mutation Theory. His theory of mutation was also widely accepted by people because his work was the first experimental study of evolution in a large scale...
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...Laboratory 1- Scientific Literacy Skills and Ethics REFERENCES Agashe D. 2009. The stabilizing effect of intraspecific genetic variation on population dynamics in novel and ancestral habitats. Am. Nat. 174: 255–267. Agashe D, Bolnic DI. 2010. Intraspecific genetic variation and competition interact to influence niche expansion. Proc. R. Soc. B. 277(1696):2915-2924. Dumont DJ, Gradwohl G, Fong GH, Puri MC, Gertenstein M, Auerbach A, Breitman ML. 1994. Dominant-negative and targeted null mutations in the endothelial receptor tyrosine kinase, tek, reveal a critical role in vasculogenesis of the embryo. Genes Dev. 8:1897-1909. Hamada K, Sasaki T, Koni PA, Natsui M, Kishimoto H, Sasaki J, Yajima N, Horie, Y, Hasegawa G, Naito M, Miyazaki J, Suda T, Itoh H, Nakao K, Wah Mak T, Nakano T, Suzuki A. 2005. The Pten/pI3k pathway governs normal vascular development and tumor angiogenesis. Genes Dev. 19:2054-2065. Jennifer Y. 2002. Genetic Variation in a Population. Animal Sciences. New York: Macmillan Reference USA. Lee CS, Orci L, Hamamoto S, Futal E, Ravazzola M, Schekman R. 2005. Sar1p n-terminal helix initiates membrane curvature and completes the fission of a copii vesicle. Cell. 122(4):605-617 Robinson R. 2003. Genetics. New York: Macmillan Reference USA. Wilmoth B, Lerner K. 2003. World of microbiology and immunology. Detroit: Gale. Yachie1 A, NiidaY, Wada T, Igarashi N, Kaneda H, Toma T, Ohta K, Kasahara Y, Koizumi S. 1999. Oxidative stress causes enhanced...
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...between types and subtypes of diseases. A new patient has been diagnoses with a certain type lung cancer and because of genetic technology doctors now can hone with precision and with certainty when treating the patient. There will be no more lets try chemotherapy, no more we have a experimental drug we could try. Doctors can with certainty say this is how we are going to cure you because of genetic technology. In gene testing scientists scan a patient's DNA sample for mutated sequences. DNA can be obtained from any tissue to include blood. Gene testing can range from hundreds to thousands of dollars depending on the size of the genes and any mutations detected. One of the most serious limitations of these susceptibility tests is the difficulty in interpreting a positive result because some people who carry a disease-associated mutation never develop the disease. A limitation of all medical testing is the possibility for laboratory errors. These might be due to sample misidentification, contamination of the chemicals used for testing, or other factors. The risks for discrimination and social stigmatization could outweigh the benefits of testing. While the FDA oversees the trials and final approval for certain medicines before they are released to the public the FDA does not regulate in this certain matter. The federal government lack of oversight has some concerned with issues that may arise. The X-Prize Foundation, an educational nonprofit, is offering a $10 million prize to...
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...Questions and Answers If You Are in Favor of Genetics in the Courtroom… Question 1: Why do you think that evidence of a defendant's genetic makeup should be allowed in a courtroom? Do you think that a person with genes that make him or her aggressive and unable to control his or her impulses is "less guilty" than someone who commits the same crime but has a normal set of genes? Yes but only if the behavioral genetic mutation has been peer reviewed by other medical scientists and there has been several cases of the mutation present. On the other hand, using behavioral genetic mutation as an excuse to decrease the severity of the punishment, could lead to more tax dollars put into someone that does society no justice, or purpose. I do not see the point on wasting money on someone that will just sit in jail and require extra attention. Extra attention means more staffing and with more staffing, leads to an increase in cost per inmate. Housing inmates has no return on this investment. This particular gene that creates the enzyme called monoamine oxidase- A would need to be measure in the “normal” human and the “mutated” human to compare the level of potency of the enzyme. If this person was a frequent drug user that caused the low level on MOAO, then the argument should not be valid, since they made the conscience choice to alter their body make up; however, if one was born with the lack of MOAO, I believe it would be okay. Genetics should not be allowed in the courtroom...
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...The Role of Genetics on Development Michelle Kennedy Nunez PSY104: Child and Adolescent Development Prof. John Gamble April 22, 2013 The Role of Genetics on Development There is a lot of excitement and uncertainty when a child enters the world. Which parent will the baby look like? She might have her mother’s blue eyes or perhaps he will have his father’s curly hair. Is this child going to be outgoing? Will the finished product of the pregnancy be healthy? Is it possible that the baby has inherited a mutation or disease? All of the answers to these questions can be answered by genetics. Genetics determine the development of the fetus in the womb and further determine the development of that fetus into a separate organism outside of the mother. Genetic material is donated equally by the parents to the child and plays a large role in the development of the reproductive offspring. Genetics can determine things as simple as the ultimate height of an individual. As an adult, an individual may be predisposed to carry extra weight on their body. Often times, when people chalk something up to genetics they look to the example of their mother and father. “The entire genetic code of a human is determined by the unique combination of a mother’s single ovum (egg) and a father’s single sperm” (Mossler, 2011). This means that each and every person walking the Earth is a combination of their biological parents, who are in turn a combination of their biological parents...
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...apoptosis stopping B-cell receptor signaling and proliferation in vitro. Ibrutinib has been shown to have clinically significant activity in patients with relapsed CLL with 71% of patients having complete or partial response and 15-20% of patients having at least a partial response. Patients treated with Ibrutinib have a 75% progression-free survival rate. This paper investigated possible resistance mechanisms to Ibrutinib associated with mutations in BTK. Mutations were determined using whole-exome sequencing of baseline samples of patients with CLL and compared to whole-exome sequences of the patients after relapse. A cysteine-to-serine mutation in BTK at the biding site was found along with three gain-of-function mutations that are downstream from the BTK binding site that lead to autonomous B-cell receptor activity. Bias of paper: The paper was not biased. Research was funded by Funded by the National Cancer Institute and other institutions. No conflicts of interest were included in this paper. Conclusion supported? Mutations of BTK binding site and B-cell receptor pathways in this study suggest that BTK is a critical target for the mechanism action of Ibrutinib. More knowledge of down stream mediators of Ibrutinib resistance can help to develop prevention and treatment of BTK inhibitor resistant CLL. However, more studies will need to be done to illustrate the statistical significance of this paper as this study only looked at a sample of 6 patients with acquired...
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...Beneficial and Harmful Mutations among Humans Mutation A gene mutation is an irreversible change in the sequence of DNA which a gene is made up of. After mutation, the sequence becomes different from that found in most human beings. Mutations are a result of damage to DNA during replication or to the genomes of RNA usually caused by chemical mutagens or radiation. Mutations in genes can either have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely. Mutations can also occur in non-genic regions. Mutations in sex cells can be transmitted to the next generation; mutations in other cells cannot be transmitted. The effects of mutation may be beneficial, harmful or neutral. The DNA fails to copy correctly thus leading to gene mutation. Harmful Mutations Harmful mutations result in severe consequences on the health of the person. Some examples of harmful mutations are as follows: 1. Sickle Cell Anemia It is an example of natural harmful mutation existing in human beings. It is a...
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...is, but with the increasing symptoms of Alzheimer’s setting in, their world is changing, and there is nothing that they can do about it. Yesterday is a blur, today is starting out in a foggy cloud. Even though, environmental factors could contribute to the onset of Alzheimer’s, 25% of all people aged 55 have family history of the disease, 50% of them will inherit the gene mutation. More studies need to be done when it comes to Alzheimer’s; a disease that is increasing in numbers and it is time to put more emphasis on this. With the number of cases rising at a fast rate, women need to stand up and take a stand and demand that more studies be performed as they are more at risk to get Alzheimer’s than Cancer; nearly two-thirds of those with Alzheimer’s are women. “Alzheimer’s disease was first identified more than 100 years ago but still relatively little is known and understood about the aetiology, pathogenesis, treatment management and prevention of the disease. Diagnosis is difficult, particularly in the early stages, and effective treatments remain elusive.” (Shan, 2013, para.) Alzheimer’s, a gene mutation that causes loss of memory, functions and eventually leads to death. Alzheimer’s played a role in over 500,000 deaths in 2010. According to The Shriver Report, 1 in 6 women will get the disease in comparison to 1 in 11 men. This disease is as real as cancer and needs to be given the same attention. Alzheimer’s is a highly...
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